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ONTOLOGY REPORT - ANNOTATIONS


Term:Frasier syndrome
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Accession:DOID:0050438 term browser browse the term
Definition:A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Synonyms:primary_id: MESH:D052159
 alt_id: OMIM:136680
 xref: GARD:2375;   NCI:C122805
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Frasier syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:7240710
RGD:8554872

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Path 1
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  disease 16017
    syndrome 6141
      Frasier syndrome 1
Path 2
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  disease 16017
    disease of anatomical entity 15273
      Urogenital Diseases 4032
        urinary system disease 0
          kidney disease 1813
            kidney failure 482
              chronic kidney disease 235
                end stage renal disease 175
                  Frasier syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.